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GENATLAS PHENOTYPE

last update : 07-11-2016

Symbol	PPPK
Location	8q24.12
Name	punctate palmoplantar keratoderma
Other name(s)	Keratoderma, palmoplantar, punctate type IB
Corresponding gene	COL14A1
Other symbol(s)	PPKP1B
Main clinical features	numerous hyperkeratotic papules irregularly distributed on the palms and soles skin biopsy of the lesions showed notable hyperkeratosis with large, wide, and cup-like keratin plugs
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Remark(s)